ClinVar Genomic variation as it relates to human health
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic(2); Likely pathogenic(5); Uncertain significance(8)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
Variation ID: 53684 Accession: VCV000053684.46
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.2 7: 117611646 (GRCh38) [ NCBI UCSC ] 7: 117251700 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 16, 2017 Aug 11, 2024 Mar 30, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000492.4:c.3205G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000483.3:p.Gly1069Arg missense NC_000007.14:g.117611646G>A NC_000007.13:g.117251700G>A NG_016465.4:g.150863G>A NG_056128.2:g.4700G>A LRG_663:g.150863G>A LRG_663t1:c.3205G>A LRG_663p1:p.Gly1069Arg - Protein change
- G1069R
- Other names
- -
- Canonical SPDI
- NC_000007.14:117611645:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00040 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00023
The Genome Aggregation Database (gnomAD), exomes 0.00026
Trans-Omics for Precision Medicine (TOPMed) 0.00028
1000 Genomes Project 30x 0.00031
The Genome Aggregation Database (gnomAD) 0.00035
1000 Genomes Project 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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CFTR | - | - |
GRCh38 GRCh37 |
3816 | 5183 | |
LOC111674472 | - | - | - | GRCh38 | - | 399 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Conflicting interpretations of pathogenicity (7) |
criteria provided, conflicting classifications
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Mar 26, 2024 | RCV000046823.26 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Nov 8, 2022 | RCV000506564.25 | |
CFTR-related disorder
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Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Dec 1, 2023 | RCV001009473.20 |
Uncertain significance (1) |
criteria provided, single submitter
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Mar 19, 2024 | RCV001375487.17 | |
Uncertain significance (1) |
criteria provided, single submitter
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Apr 5, 2022 | RCV002226453.9 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Mar 30, 2024 | RCV003474569.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Nov 22, 2017)
|
criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000795750.1
First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017 |
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Pathogenic
(Jul 03, 2015)
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criteria provided, single submitter
Method: curation
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CFTR-related disorders
Affected status: yes
Allele origin:
germline
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CFTR-France
Accession: SCV001169568.1
First in ClinVar: Mar 16, 2020 Last updated: Mar 16, 2020 |
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Uncertain significance
(Apr 28, 2017)
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criteria provided, single submitter
Method: clinical testing
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CFTR-Related Disorders
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001325544.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
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Uncertain significance
(Jul 30, 2020)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002507382.1
First in ClinVar: May 16, 2022 Last updated: May 16, 2022 |
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Uncertain significance
(Sep 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000074836.7
First in ClinVar: Jul 03, 2013 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1069 of the CFTR protein (p.Gly1069Arg). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1069 of the CFTR protein (p.Gly1069Arg). This variant is present in population databases (rs200321110, gnomAD 0.1%). This missense change has been observed in individual(s) with cystic fibrosis, congenital bilateral absence of the vas deferens, and chronic pancreatitis (PMID: 8528204, 9239681, 11729110, 17003641, 17329263, 20460946, 23951356, 23974870, 25033378, 25869325, 25910067). ClinVar contains an entry for this variant (Variation ID: 53684). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CFTR protein function. Experimental studies have shown that this missense change affects CFTR function (PMID: 8662892, 18305154). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Pathogenic
(Nov 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603016.6
First in ClinVar: Dec 06, 2016 Last updated: Mar 04, 2023 |
Comment:
The CFTR c.3205G>A; p.Gly1069Arg variant (rs200321110) is reported in the literature in multiple individuals affected with CFTR-related disorders (Keiles 2006, LaRusch 2014, Masson 2013, Ratbi … (more)
The CFTR c.3205G>A; p.Gly1069Arg variant (rs200321110) is reported in the literature in multiple individuals affected with CFTR-related disorders (Keiles 2006, LaRusch 2014, Masson 2013, Ratbi 2007). It has also been reported in patients with cystic fibrosis without an identified second variant in CFTR (Angelicheva 1997, Savov 1994, Sosnay 2013), and was found in-cis with a truncating variant in one patient (Savov 1994). This variant is reported in ClinVar (Variation ID: 53684), and is found in the general population with an overall allele frequency of 0.027% (75/282294 alleles) in the Genome Aggregation Database. The glycine at codon 1069 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.603). However, other computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic acceptor splice site. In vitro functional analyses demonstrate that this variant does not alter protein expression, but reduces channel function (Seibert 1996). Based on the range of clinical symptoms observed in patients with this variant, we consider the p.Gly1069Arg variant to be pathogenic with varying clinical consequences. References: Angelicheva D et al. Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study. Hum Genet. 1997 Apr;99(4):513-20. PMID: 9099843. Guan WJ et al. Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis. J Thorac Dis. 2018 May;10(5):2618-2630. PMID: 29997923. Keiles S and Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006 Oct;33(3):221-7. PMID: 17003641. LaRusch J et al. Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. PLoS Genet. 2014 Jul 17;10(7):e1004376. PMID: 25033378. Masson E et al. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. PLoS One. 2013 Aug 8;8(8):e73522. PMID: 23951356. Ratbi I et al. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod. 2007 May;22(5):1285-91. PMID: 17329263. Savov A et al. Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing. Hum Mol Genet. 1994 Jan;3(1):57-60. PMID: 7512860. Seibert FS et al. Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity. J Biol Chem. 1996 Jun 21;271(25):15139-45. PMID: 8662892. Sosnay PR et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 Oct;45(10):1160-7. PMID: 23974870. Zou WB et al. SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis. Clin Transl Gastroenterol. 2018 Nov 12;9(11):204. PMID: 30420730. (less)
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Uncertain significance
(Dec 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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CFTR-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004115124.2
First in ClinVar: Nov 20, 2023 Last updated: Mar 16, 2024 |
Comment:
The CFTR c.3205G>A variant is predicted to result in the amino acid substitution p.Gly1069Arg. This variant has been reported for a range of phenotypes including … (more)
The CFTR c.3205G>A variant is predicted to result in the amino acid substitution p.Gly1069Arg. This variant has been reported for a range of phenotypes including pancreatitis, bronchiectasis, sarcoidosis, cystic fibrosis and congenital bilateral absence of the vas deferens (Masson et al 2013. PubMed ID: 23951356; Keiles et al 2006. PubMed ID: 17003641; Ratbi et al 2007. PubMed ID: 17329263; Bombieri et al 2000. PubMed ID: 10980579; Guan et al 2018. PubMed ID: 29997923). Functional studies in cell lines suggest the p.Gly1069Arg variant does not affect CFTR transmembrane conductance (see supplemental table 2 in Sosnay et al 2013. PubMed ID: 23974870; Seibert et al 1996. PubMed ID: 8662892). This variant has conflicting interpretations in ClinVar ranging from uncertain significance to pathogenic by different laboratories (https://www.ncbi.nlm.nih.gov/clinvar/variation/53684/). This variant is reported in 0.12% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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Likely pathogenic
(Mar 30, 2024)
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criteria provided, single submitter
Method: clinical testing
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Bronchiectasis with or without elevated sweat chloride 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004213280.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Uncertain significance
(Mar 19, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696958.10
First in ClinVar: Apr 16, 2017 Last updated: Jun 29, 2024 |
Comment:
Variant summary: CFTR c.3205G>A (p.Gly1069Arg) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded … (more)
Variant summary: CFTR c.3205G>A (p.Gly1069Arg) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00026 in 251634 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in CFTR causing CFTR-Related Diseases (0.00026 vs 0.013), allowing no conclusion about variant significance. c.3205G>A has been reported in the literature in compound heterozygosity with a second pathogenic CFTR mutation in individuals affected with CF (e.g. DeBoeck_2005, Savov_1995, Mota_2018, Petrova_2019) and chronic pancreatitis (e.g. Keiles_2006, Noone_2001), but also in an infant reported with a positive immunoreactive trypsinogen test upon newborn screening whom did not exhibit other signs or symptoms of CF or CF-related disease upon follow-ups through the age of 3 years (Ooi_2015). The variant has also been reported in multiple individuals affected with these and other CFTR-Related Diseases, including pancreatitis, congenital bilateral absence of the vas deferens , and classical CF, but without a second CFTR mutation identified/specified (e.g. Chang_2007, Faucz_2007, Giefer_2017, Lucarelli_2015, Ooi_2015, Sofia_2016, Soltysova_2017, Sosnay_2013, Petrova_2019, Luo_2021, Raraigh_2022), therefore these data do not allow any definitive conclusions about variant significance. In addition, the variant has been reported in phase with another pathogenic mutation in several affected individuals, including at least 4 occurrences in cis with p.Leu88X in CF patients from Bulgaria and Greece (e.g. Ratbi_2007), and at least 2 occurrences in cis with p.Tyr109Cys in CF patients from Brazil (e.g. Mota_2018), suggesting that the phenotype in these individuals may not be attributable to the p.Gly1069Arg variant. Furthermore, co-occurrence with another pathogenic variant associated with pancreatitis risk has also been reported in an individual affected with chronic pancreatitis (SPINK1, p.Asn34Ser; Masson_2013), therefore the contributions of the individual variants to the phenotype in this patient cannot be determined. Several publications report in vitro experimental evidence suggesting that the variant does not affect protein expression or maturation, but may alter intracellular localization and moderately impair channel function (e.g. Dong_2012, Seiber_1996, Serohijos_2008). The following publications have been ascertained in the context of this evaluation (PMID: 10980579, 17539902, 10923036, 15772171, 22210114, 17718859, 28502372, 29589582, 29997923, 17003641, 25910067, 32777524, 23951356, 30232781, 11729110, 25963003, 31245908, 34782259, 17329263, 8528204, 8662892, 18305154, 27264265, 28544683, 23974870, 32150665). ClinVar contains an entry for this variant (Variation ID: 53684). The CFTR2 database cites this variant as having varying consequences, indicating that some patients with this variant, combined with another CF-causing variant, have CF while others do not, suggesting that clinical information is necessary for diagnosis of disease in individuals found to carry this variant. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic until additional information becomes available. (less)
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Uncertain significance
(Apr 12, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000331451.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 3
Sex: mixed
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Likely pathogenic
(Feb 10, 2020)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
|
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV001425380.1
First in ClinVar: Aug 03, 2020 Last updated: Aug 03, 2020 |
Comment:
CFTR variant associated with variable clinical consequences. See www.CFTR2.org for phenotype information.
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Likely pathogenic
(Jun 30, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601092.2
First in ClinVar: Sep 30, 2017 Last updated: Jan 01, 2022 |
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Uncertain significance
(Apr 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary pancreatitis
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV002505583.1
First in ClinVar: Apr 30, 2022 Last updated: Apr 30, 2022 |
Comment:
Criteria applied: PM3, PP3 this Variant was identiefied with NM_003122.5 (SPINK1):c.101A>G, p.(Asn34Ser) and the UTR variant c.-4141G>T in patient with hereditary pancreatitis
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Likely pathogenic
(Feb 01, 2024)
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criteria provided, single submitter
Method: curation
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Cystic fibrosis
Affected status: no
Allele origin:
germline
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Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV005052071.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
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Likely pathogenic
(Mar 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV001180539.5
First in ClinVar: Mar 16, 2020 Last updated: Aug 11, 2024 |
Comment:
The p.G1069R variant (also known as c.3205G>A), located in coding exon 20 of the CFTR gene, results from a G to A substitution at nucleotide … (more)
The p.G1069R variant (also known as c.3205G>A), located in coding exon 20 of the CFTR gene, results from a G to A substitution at nucleotide position 3205. The glycine at codon 1069 is replaced by arginine, an amino acid with dissimilar properties. This variant was first reported in an individual with cystic fibrosis, pancreatic insufficiency, and significant lung disease in cis with a nonsense mutation and in trans with p.F508del (Savov A et al. Hum. Mol. Genet., 1994 Jan;3:57-60). The p.G1069R variant has been reported as a variant of varying clinical consequences (VVCC) and has been identified in trans with a pathogenic mutation in individuals with intermediate sweat chloride levels and pancreatic insufficiency (Sosnay PR et al. Nat. Genet. 2013 Oct; 45(10):1160-7; Sosnay PR et al. Pediatr. Clin. North Am., 2016 08;63:585-98). Two siblings with idiopathic chronic pancreatitis (ICP) were both found to be heterozygous for p.G1069R and a second variant in CFTR; however, phase was not confirmed (Noone PG et al. Gastroenterology, 2001 Dec;121:1310-9). Another study of individuals with ICP identified this variant in an individual who was also heterozygous for the p.N34S mutation in SPINK1 (Masson E et al. PLoS ONE, 2013 Aug;8:e73522). Functional studies demonstrated that while the p.G1069R variant in CFTR does not impact protein maturation or conductance, it does reduce the probability of channel opening (Seibert FS et al. J. Biol. Chem., 1996 Jun;271:15139-45). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
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Likely pathogenic
(May 20, 2019)
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no assertion criteria provided
Method: clinical testing
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CFTR-related disorders
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001190640.1
First in ClinVar: Mar 29, 2020 Last updated: Mar 29, 2020 |
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Likely pathogenic
(Jul 30, 2020)
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no assertion criteria provided
Method: clinical testing
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CFTR-related disorders
Affected status: unknown
Allele origin:
germline
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002507469.1
First in ClinVar: May 16, 2022 Last updated: May 16, 2022 |
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Likely pathogenic
(Feb 21, 2022)
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no assertion criteria provided
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV001163176.2
First in ClinVar: Feb 29, 2020 Last updated: Oct 15, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment. | Raraigh KS | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2022 | PMID: 34782259 |
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients. | Luo S | Gene | 2021 | PMID: 32777524 |
Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time? | Terlizzi V | Pediatric pulmonology | 2020 | PMID: 32150665 |
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients. | Petrova G | Molecular genetics & genomic medicine | 2019 | PMID: 31245908 |
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis. | Zou WB | Clinical and translational gastroenterology | 2018 | PMID: 30420730 |
Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State. | Mota LR | Molecular biology reports | 2018 | PMID: 30232781 |
Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis. | Guan WJ | Journal of thoracic disease | 2018 | PMID: 29997923 |
Cystic fibrosis: Identification and frequency of mutations in a mixed population from a low-income region in Northeastern Brazil. | Mota LR | Pediatric pulmonology | 2018 | PMID: 29727070 |
Spectrum of CFTR gene sequence variants in a northern Portugal population. | Grangeia A | Pulmonology | 2018 | PMID: 29589582 |
Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics. | Soltysova A | The clinical respiratory journal | 2018 | PMID: 28544683 |
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations. | Giefer MJ | The Journal of pediatrics | 2017 | PMID: 28502372 |
Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype. | Sosnay PR | Pediatric clinics of North America | 2016 | PMID: 27469177 |
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis. | Sofia VM | Molecular medicine (Cambridge, Mass.) | 2016 | PMID: 27264265 |
Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD). | Destouni A | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2016 | PMID: 26493493 |
Inconclusive diagnosis of cystic fibrosis after newborn screening. | Ooi CY | Pediatrics | 2015 | PMID: 25963003 |
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis. | Lucarelli M | Molecular medicine (Cambridge, Mass.) | 2015 | PMID: 25910067 |
Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment. | Chang MC | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2015 | PMID: 25869325 |
Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics. | Mornon JP | Cellular and molecular life sciences : CMLS | 2015 | PMID: 25287046 |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. | Tabor HK | American journal of human genetics | 2014 | PMID: 25087612 |
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. | LaRusch J | PLoS genetics | 2014 | PMID: 25033378 |
Allosteric coupling between the intracellular coupling helix 4 and regulatory sites of the first nucleotide-binding domain of CFTR. | Dawson JE | PloS one | 2013 | PMID: 24058550 |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. | Sosnay PR | Nature genetics | 2013 | PMID: 23974870 |
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. | Masson E | PloS one | 2013 | PMID: 23951356 |
Functional Rescue of F508del-CFTR Using Small Molecule Correctors. | Molinski S | Frontiers in pharmacology | 2012 | PMID: 23055971 |
Human-mouse cystic fibrosis transmembrane conductance regulator (CFTR) chimeras identify regions that partially rescue CFTR-ΔF508 processing and alter its gating defect. | Dong Q | Proceedings of the National Academy of Sciences of the United States of America | 2012 | PMID: 22210114 |
CFTR gene mutation in patients with apparently idiopathic pancreatitis: lack of phenotype-genotype correlation. | Pelletier AL | Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] | 2010 | PMID: 20460946 |
Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. | Audrezet MP | The Journal of molecular diagnostics : JMD | 2008 | PMID: 18687795 |
Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function. | Serohijos AW | Proceedings of the National Academy of Sciences of the United States of America | 2008 | PMID: 18305154 |
Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles. | Faucz FR | Clinical genetics | 2007 | PMID: 17718859 |
Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis. | Chang MC | Clinical genetics | 2007 | PMID: 17539902 |
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. | Ratbi I | Human reproduction (Oxford, England) | 2007 | PMID: 17329263 |
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. | Keiles S | Pancreas | 2006 | PMID: 17003641 |
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility. | Morea A | Molecular human reproduction | 2005 | PMID: 16126774 |
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. | Schrijver I | The Journal of molecular diagnostics : JMD | 2005 | PMID: 16049310 |
Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype. | De Boeck K | Pediatrics | 2005 | PMID: 15772171 |
Reduced CFTR function and the pathobiology of idiopathic pancreatitis. | Cohn JA | Journal of clinical gastroenterology | 2005 | PMID: 15758663 |
Longitudinal follow-up of exocrine pancreatic function in pancreatic sufficient cystic fibrosis patients using the fecal elastase-1 test. | Walkowiak J | Journal of pediatric gastroenterology and nutrition | 2003 | PMID: 12658038 |
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. | Bobadilla JL | Human mutation | 2002 | PMID: 12007216 |
Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. | Noone PG | Gastroenterology | 2001 | PMID: 11729110 |
Insulin improves clinical status of patients with cystic-fibrosis-related diabetes mellitus. | Nousia-Arvanitakis S | Acta paediatrica (Oslo, Norway : 1992) | 2001 | PMID: 11430710 |
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study. | Bombieri C | European journal of human genetics : EJHG | 2000 | PMID: 10980579 |
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. | Claustres M | Human mutation | 2000 | PMID: 10923036 |
Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study. | Angelicheva D | Human genetics | 1997 | PMID: 9099843 |
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. | De Braekeleer M | Molecular human reproduction | 1996 | PMID: 9239681 |
Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator. | Cotten JF | The Journal of biological chemistry | 1996 | PMID: 8702904 |
Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity. | Seibert FS | The Journal of biological chemistry | 1996 | PMID: 8662892 |
Double mutant alleles: are they rare? | Savov A | Human molecular genetics | 1995 | PMID: 8528204 |
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations. | Mercier B | Journal of medical genetics | 1994 | PMID: 7529319 |
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing. | Savov A | Human molecular genetics | 1994 | PMID: 7512860 |
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Text-mined citations for rs200321110 ...
HelpRecord last updated Sep 17, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.